Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort

BACKGROUND: To date, certain efforts have been made to investigate the clinical and genetic characteristics of patients with EYS mutations. However, data for Chinese patients are limited. OBJECTIVES: To perform a detailed phenotyping and genetic characterization of 55 Chinese patients with EYS-RD, a...

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Detalles Bibliográficos
Autores principales: Gao, Feng-Juan, Wang, Dan-Dan, Hu, Fang-Yuan, Xu, Ping, Chang, Qing, Li, Jian-Kang, Liu, Wei, Zhang, Sheng-Hai, Xu, Ge-Zhi, Wu, Ji-Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581949/
https://www.ncbi.nlm.nih.gov/pubmed/34689181
http://dx.doi.org/10.1038/s41433-021-01794-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9581949/
https://www.ncbi.nlm.nih.gov/pubmed/34689181
http://dx.doi.org/10.1038/s41433-021-01794-6

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